Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.A198fs
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SLC3A1

NM_000341.4:p.A198fs

Associated Papers

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Alghamdi M et al.

Frontiers in Pediatrics, 2020

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

Tostivint I et al.

Clinical Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."